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familial lipoprotein lipase deficiency

Go to external page http://purl.obolibrary.org/obo/DOID_14118

A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides. [ http://purl.obolibrary.org/obo/ECO_0007636 ]

Term info

Label

familial lipoprotein lipase deficiency

Synonyms
  • Fredrickson type I hyperlipoproteinemia
  • Fredrickson type I lipaemia
  • familial LPL deficiency
  • familial chylomicronemia syndrome
  • familial hyperlipoproteinemia type I
  • hypercholesterinaemic xanthomatosis
  • hyperchylomicronemia
  • mixed hyperglyceridemia
database cross reference
Subsets

NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

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disease_ontology

id

DOID:14118